ClinVar Miner

Submissions for variant NM_153717.3(EVC):c.188A>G (p.Gln63Arg)

gnomAD frequency: 0.00002  dbSNP: rs772017175
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001939246 SCV002219712 uncertain significance Ellis-van Creveld syndrome; Curry-Hall syndrome 2021-08-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 63 of the EVC protein (p.Gln63Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs772017175, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with EVC-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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